Canonical Allele Identifier: CA401356398

Gene: CARD14 SGSH

Linked Data

• gnomAD v4: 17-80205603-G-T
• MyVariant Identifiers: chr17:g.78179402G>T (hg19) ; chr17:g.80205603G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80205603G>T , CM000679.2:g.80205603G>T	GRCh38
NC_000017.10:g.78179402G>T , CM000679.1:g.78179402G>T	GRCh37
NC_000017.9:g.75793997G>T	NCBI36
NG_032778.1:g.40612G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000571427.2:c.2642G>T (CARD14)	ENSP00000516501.1:p.Gly881Val
ENST00000703566.1:c.*478G>T (CARD14)	ENSP00000515382.1:n.*478G>T
ENST00000703567.1:c.*478G>T (CARD14)	ENSP00000515383.1:n.*478G>T
ENST00000703568.1:c.*1102G>T (CARD14)	ENSP00000515384.1:n.*1102G>T
ENST00000703569.1:n.2843G>T (CARD14)
ENST00000703570.1:n.1558G>T (CARD14)
ENST00000703571.1:n.1490G>T (CARD14)
ENST00000703572.1:n.526G>T (CARD14)
ENST00000703573.1:n.860G>T (CARD14)
ENST00000648509.2:c.2642G>T (CARD14) MANE Select	ENSP00000498071.1:p.Gly881Val
ENST00000649277.1:n.1399G>T (CARD14)
ENST00000650867.1:c.*87G>T (CARD14)	ENSP00000498570.1:n.*87G>T
ENST00000651068.1:c.*1001G>T (CARD14)	ENSP00000498274.1:n.*1001G>T
ENST00000651672.1:c.2669G>T (CARD14)	ENSP00000499145.1:p.Gly890Val
ENST00000344227.6:c.2642G>T (CARD14)	ENSP00000344549.2:p.Gly881Val
ENST00000573882.5:c.2642G>T (CARD14)	ENSP00000458715.1:p.Gly881Val
ENST00000575500.5:c.*1102G>T (CARD14)	ENSP00000460883.1:n.*1102G>T
NM_024110.4:c.2642G>T (CARD14)	NP_077015.2:p.Gly881Val
NR_047566.1:n.2817G>T (CARD14)
XM_011525212.1:c.2642G>T (CARD14)	XP_011523514.1:p.Gly881Val
XM_011525213.1:c.2642G>T (CARD14)	XP_011523515.1:p.Gly881Val
XM_011525214.1:c.2642G>T (CARD14)	XP_011523516.1:p.Gly881Val
XM_011525215.1:c.2642G>T (CARD14)	XP_011523517.1:p.Gly881Val
XM_011525216.1:c.2642G>T (CARD14)	XP_011523518.1:p.Gly881Val
XM_011525217.1:c.2642G>T (CARD14)	XP_011523519.1:p.Gly881Val
XM_011525218.1:c.2642G>T (CARD14)	XP_011523520.1:p.Gly881Val
XM_011525219.1:c.*87G>T (CARD14)	XP_011523521.1:n.*87G>T
NM_001366385.1:c.2642G>T (CARD14) MANE Select	NP_001353314.1:p.Gly881Val
XM_011525218.2:c.2642G>T (CARD14)	XP_011523520.1:p.Gly881Val
XM_024450934.1:c.2639G>T (CARD14)	XP_024306702.1:p.Gly880Val
XM_024450935.1:c.2642G>T (CARD14)	XP_024306703.1:p.Gly881Val
XR_001752586.1:n.1493C>A (SGSH)
XR_001752587.1:n.1300C>A (SGSH)
XR_001752588.1:n.1493C>A (SGSH)
XR_001752589.1:n.1493C>A (SGSH)
XR_001752590.1:n.1493C>A (SGSH)
XR_001752591.1:n.1493C>A (SGSH)
XR_001752592.1:n.1493C>A (SGSH)
XR_002958057.1:n.2090C>A (SGSH)
XR_002958065.1:n.2792G>T (CARD14)
NR_047566.2:n.2779G>T (CARD14)